X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations.
Scheinman
S J
SJ
Department of Medicine, SUNY Health Science Center, Syracuse, New York, USA. scheinms@vax.cs.hscsyr.edu
D000595:Amino Acid Sequence; D002118:Calcium / Q000652:urine*; D018118:Chloride Channels / Q000235:genetics / Q000502:physiology; D008040:Genetic Linkage; D006801:Humans; D007669:Kidney Calculi / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D007687:Kidney Tubules, Proximal / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D011507:Proteinuria / Q000235:genetics; D014960:X Chromosome
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D002118:Calcium